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GENATLAS PHENOTYPE

last update : 05-07-2016

Symbol	CJS
Location	7q32.1
Name	Curry-Jones syndrome
Corresponding gene	SMO
Main clinical features	multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas preaxial polydactyly and syndactyly of the hands and/or feet mild to moderate mental retardation
Genetic determination	not applicable
Function/system disorder	mental retardation
	osteo-articular
	dermatology
	eye
Type	disease

Remark(s)

major phenotypic features of CJS are attributable to excessive activation of HH signaling owing to a specific c.1234C>T (p.Leu412Phe) somatic mutation (PMID: 27236920))